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A Goldenhar Syndrome described in neonatal period: case report

Year 2012, Volume: 1 Issue: 2, 79 - 82, 01.05.2012
https://doi.org/10.5505/abantmedj.2012.54264

Abstract

Oculo-aurikulo-vertebral syndrome also referred to as Goldenhar Syndrome is a rare condition described initially by Goldenhar in 1952. Goldenhar Syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. The syndrome is characterized by anomalies of the ear, hemifacial microsomia, and defects of the vertebral column. The etiology of this rare syndrome is not understood completely and seems to be heterogeneous. Management of Goldenhar syndrome requires a multidisciplinary approach to provide most appropriate treatment. Here we report a newborn with Goldenhar Syndrome who presented all classical signs of this rare condition.

References

  • Goldenhar M. Associations malformatives de l’oneil et de l’oreille, en particulier le syndrome epibulbaire-appendices auriculaires dermoide fistula auris congenita et ses relatons avec la dysostose mandibulo faciale. J Genet Hum 1952;1:243-282.
  • Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauri- culovertebral Dysplasia. J Pediatr 1963;63:991-999.
  • Tasse C, Bohringer S, Fischer S, Ludecke HJ, Albrecht B, Horn D, Janecke A, Kling R, Konig R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluati- on and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005;48:397-411.
  • Vinay C, Reddy RS, Uloopi KS, Madhuri V, Sekhar RC. Craniofacial features in Goldenhar syndrome. J Indian Soc Pedod Prev Dent 2009;27:121-124.
  • Martelli H, Jr., Miranda RT, Fernandes CM, Bonan PR, Paranaiba LM, Graner E, Coletta RD. Goldenhar syndrome: clinical features with orofacial emphasis. J Appl Oral Sci 2010;18:646-649.
  • Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO. Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 1987;26:361-375.
  • Rosa RF, Graziadio C, Lenhardt R, Alves RP, Paskulin GA, Zen PR. Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syn- drome). Arq Neuropsiquiatr 2010;68:98-102.
  • Rosa RF, Silva AP, Goetze TB, Bier Bde A, Almeida ST, Paskulin GA, Zen PR. Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Braz J Otorhinolaryngol 2011;77:455-460.
  • Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth develo- pment. Nat Genet 1994;6:348-356.
  • Rosa RF, Dall'agnol L, Zen PR, Pereira VL, Graziadio C, Paskulin GA. Oculo-auriculo-vertebral spectrum and cardiac malformations. Rev Assoc Med Bras 2010;56:62-66.

Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu sunumu

Year 2012, Volume: 1 Issue: 2, 79 - 82, 01.05.2012
https://doi.org/10.5505/abantmedj.2012.54264

Abstract

Goldenhar sendromu olarak da bilinen okülo-aurikulo-vertebral sendrom, ilk kez 1952 yılında Goldenhar tarafından tanımlanmıştır. Goldenhar sendromu birinci ve ikinci brankiyal yarıktan köken alan yapıların konjenital anomalilerini içerir. Kulak anomalileri, hemifasiyal mikrosomi ve vertebral kolon anomalileri ile karakterizedir. Sendromun nedeni tam olarak bilinmemekle birlikte heterojen kaynaklı olduğu düşünülmektedir. Goldenhar sendromunun yönetimi, en uygun tedaviyi sağlamak için multidisipliner yaklaşım gerektirir. Burada sendromun tüm klasik bulgularına sahip Goldenhar sendromlu yenidoğan vakası sunuldu.

References

  • Goldenhar M. Associations malformatives de l’oneil et de l’oreille, en particulier le syndrome epibulbaire-appendices auriculaires dermoide fistula auris congenita et ses relatons avec la dysostose mandibulo faciale. J Genet Hum 1952;1:243-282.
  • Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauri- culovertebral Dysplasia. J Pediatr 1963;63:991-999.
  • Tasse C, Bohringer S, Fischer S, Ludecke HJ, Albrecht B, Horn D, Janecke A, Kling R, Konig R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluati- on and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005;48:397-411.
  • Vinay C, Reddy RS, Uloopi KS, Madhuri V, Sekhar RC. Craniofacial features in Goldenhar syndrome. J Indian Soc Pedod Prev Dent 2009;27:121-124.
  • Martelli H, Jr., Miranda RT, Fernandes CM, Bonan PR, Paranaiba LM, Graner E, Coletta RD. Goldenhar syndrome: clinical features with orofacial emphasis. J Appl Oral Sci 2010;18:646-649.
  • Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO. Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 1987;26:361-375.
  • Rosa RF, Graziadio C, Lenhardt R, Alves RP, Paskulin GA, Zen PR. Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syn- drome). Arq Neuropsiquiatr 2010;68:98-102.
  • Rosa RF, Silva AP, Goetze TB, Bier Bde A, Almeida ST, Paskulin GA, Zen PR. Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Braz J Otorhinolaryngol 2011;77:455-460.
  • Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth develo- pment. Nat Genet 1994;6:348-356.
  • Rosa RF, Dall'agnol L, Zen PR, Pereira VL, Graziadio C, Paskulin GA. Oculo-auriculo-vertebral spectrum and cardiac malformations. Rev Assoc Med Bras 2010;56:62-66.
There are 10 citations in total.

Details

Primary Language Turkish
Journal Section Case Report
Authors

Özlem Elkıran This is me

Erdal Yılmaz This is me

Neşe Çıtak Kurt This is me

Saadet Akarsu This is me

Abdullah Kurt This is me

Denizmen Aygün This is me

Publication Date May 1, 2012
Published in Issue Year 2012 Volume: 1 Issue: 2

Cite

APA Elkıran, Ö., Yılmaz, E., Kurt, N. Ç., Akarsu, S., et al. (2012). Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu sunumu. Abant Medical Journal, 1(2), 79-82. https://doi.org/10.5505/abantmedj.2012.54264
AMA Elkıran Ö, Yılmaz E, Kurt NÇ, Akarsu S, Kurt A, Aygün D. Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu sunumu. Abant Med J. May 2012;1(2):79-82. doi:10.5505/abantmedj.2012.54264
Chicago Elkıran, Özlem, Erdal Yılmaz, Neşe Çıtak Kurt, Saadet Akarsu, Abdullah Kurt, and Denizmen Aygün. “Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu Sunumu”. Abant Medical Journal 1, no. 2 (May 2012): 79-82. https://doi.org/10.5505/abantmedj.2012.54264.
EndNote Elkıran Ö, Yılmaz E, Kurt NÇ, Akarsu S, Kurt A, Aygün D (May 1, 2012) Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu sunumu. Abant Medical Journal 1 2 79–82.
IEEE Ö. Elkıran, E. Yılmaz, N. Ç. Kurt, S. Akarsu, A. Kurt, and D. Aygün, “Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu sunumu”, Abant Med J, vol. 1, no. 2, pp. 79–82, 2012, doi: 10.5505/abantmedj.2012.54264.
ISNAD Elkıran, Özlem et al. “Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu Sunumu”. Abant Medical Journal 1/2 (May 2012), 79-82. https://doi.org/10.5505/abantmedj.2012.54264.
JAMA Elkıran Ö, Yılmaz E, Kurt NÇ, Akarsu S, Kurt A, Aygün D. Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu sunumu. Abant Med J. 2012;1:79–82.
MLA Elkıran, Özlem et al. “Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu Sunumu”. Abant Medical Journal, vol. 1, no. 2, 2012, pp. 79-82, doi:10.5505/abantmedj.2012.54264.
Vancouver Elkıran Ö, Yılmaz E, Kurt NÇ, Akarsu S, Kurt A, Aygün D. Yenidoğan döneminde tanımlanan Goldenhar Sendromu: Olgu sunumu. Abant Med J. 2012;1(2):79-82.